Canonical Allele Identifier: CA1828292647

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729397_2729398delinsTC , CM000671.2:g.2729397_2729398delinsTC	GRCh38
NC_000009.11:g.2729397_2729398delinsTC , CM000671.1:g.2729397_2729398delinsTC	GRCh37
NC_000009.10:g.2719397_2719398delinsTC	NCBI36
NG_012181.1:g.16872_16873delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-49_1357-48delinsTC (KCNV2) MANE Select	ENSP00000371514.3:n.1357-49_1357-48delinsTC
ENST00000382082.3:c.1357-49_1357-48delinsTC (KCNV2)	ENSP00000371514.3:n.1357-49_1357-48delinsTC
ENST00000490444.2:c.277-8866_277-8865delinsGA (PUM3)	ENSP00000474467.1:n.277-8866_277-8865delinsGA
NM_133497.3:c.1357-49_1357-48delinsTC (KCNV2)	NP_598004.1:n.1357-49_1357-48delinsTC
XR_929202.1:n.2002-49_2002-48delinsTC (KCNV2)
XR_929203.1:n.2373_2374delinsTC (KCNV2)
NM_133497.4:c.1357-49_1357-48delinsTC (KCNV2) MANE Select	NP_598004.1:n.1357-49_1357-48delinsTC